SD
MCID: SLL003
MIFTS: 39

Salla Disease (SD) malady

Metabolic category

Summaries for Salla Disease

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. infants with salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life, followed by slowly progressive neurological problems. signs and symptoms include intellectual disability and developmental delay; seizures; ataxia; muscle spasticity; and involuntary slow movements of the limbs (athetosis). about one-third of affected children learn to walk. it is caused by mutations in the slc17a5 gene and is inherited in an autosomal recessive manner. treatment is generally symptomatic and supportive. last updated: 10/14/2011

MalaCards: Salla Disease, also known as sialic acid storage disease, finnish type, is related to intermediate severe salla disease and free sialic acid storage disorders. An important gene associated with Salla Disease is SLC17A5 (solute carrier family 17 (acidic sugar transporter), member 5), and among its related pathways are Tuberculosis and Phagosome. The compounds dmso and iron have been mentioned in the context of this disorder. Affiliated tissues include brain.

Wikipedia:64 Salla disease (SD), also called sialic acid storage disease or Finnish type sialuria, is an autosomal... more...

Description from OMIM:47 604369

Aliases & Classifications for Salla Disease

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Aliases & Descriptions:

salla disease 43 20 22 47 49
sialic acid storage disease, finnish type 61
sialuria, finnish type 43
sd 43


External Ids:

OMIM47 604369
ICD10 via Orphanet26 E77.8

Related Diseases for Salla Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Salla Disease family:

intermediate severe salla disease

Diseases related to Salla Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1intermediate severe salla disease10.5
2free sialic acid storage disorders10.4
3shwachman-diamond syndrome10.4
4hemoglobin d disease10.3
5brain disease10.3
6hemoglobin c disease10.3
7infantile free sialic acid storage disease10.2
8diabetic macular edema10.1
9ocular hypertension10.1
10sialuria10.1
11cystinosis10.1
12sialidosis type i10.1
13lip disease10.1
14hydronephrosis10.0
15retinitis pigmentosa10.0
16hereditary spherocytosis10.0
17sickle cell disease10.0
18central serous chorioretinopathy10.0
19semantic dementia10.0
20hemoglobin sd10.0
21primary autosomal recessive microcephaly type 110.0
22microcephaly 2, primary, autosomal recessive, with or without cortical malformations10.0
23sickle cell - hemoglobin d disease10.0
24sickle cell - hemoglobin c disease10.0
25chediak-higashi syndrome10.0LAMP1
26danon disease10.0LAMP2
27cholestasis10.0SLC17A5
28hermansky-pudlak syndrome10.0LAMP2
29hypertrophic cardiomyopathy10.0LAMP2
30tuberculosis10.0LAMP1
31lysosomal acid phosphatase deficiency10.0LAMP2, LAMP1
32moyamoya disease9.9
33hemoglobin e disease9.9
34spondylolisthesis9.9
35corneal ectasia9.9
36anisakiasis9.9
37autoimmune thrombocytopenic purpura9.9
38obstructive jaundice9.9
39rhinotracheitis9.9
40autosomal dominant microcephaly9.9
41amelanotic melanoma9.9
42monkeypox9.9
43diabetic polyneuropathy9.9
44cystoid macular edema9.9
45dyslexia9.9
46brachyolmia9.9
47glanzmann's thrombasthenia9.9
48pharyngitis9.9
49plasmodium vivax malaria9.9
50macular holes9.9

Graphical network of the top 20 diseases related to Salla Disease:



Diseases related to salla disease

Clinical Features for Salla Disease

Sources:
47OMIM
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Clinical features from OMIM:

604369

Clinical synopsis from OMIM:

604369

Drugs & Therapeutics for Salla Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Salla Disease

Drug clinical trials:

Search ClinicalTrials for Salla Disease

Search NIH Clinical Center for Salla Disease

Search CenterWatch for Salla Disease

Genetic Tests for Salla Disease

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Salla Disease:

id Genetic test Affiliating Genes
1 Salla Disease20 22 SLC17A5

Anatomical Context for Salla Disease

Sources:
33MalaCards
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MalaCards organs/tissues related to Salla Disease:

33
Brain

Animal Models for Salla Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Salla Disease

Sources:
51PubMed
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Articles related to Salla Disease:

(show all 48)
idTitleAuthorsYear
1
An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation. (23227378)
2012
2
Salla disease in Turkish children: severe and conventional type. (20196397)
2009
3
Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. (16158439)
2005
4
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. (16170568)
2005
5
Novel form of intermediate salla disease: clinical and neuroimaging features. (16417876)
2005
6
Salla disease and ISSD--what does the future hold? (15171996)
2004
7
Neurocognitive profiles in Salla disease. (15581157)
2004
8
Cerebellar white matter involvement in Salla disease. (15179531)
2004
9
Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder. (15635485)
2004
10
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. (12794687)
2003
11
A case of Salla disease with involvement of the cerebellar white matter. (12592494)
2003
12
Two cases of Salla disease in Danish children. (14696864)
2003
13
Free sialic acid storage (Salla) disease in Sweden. (12578289)
2002
14
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. (12121352)
2002
15
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. (11992753)
2002
16
Multiple neuroendocrine disorder in Salla disease. (11669356)
2001
17
Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. (10891913)
2000
18
Brain involvement in Salla disease. (10219409)
1999
19
A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease. (10331697)
1999
20
Increased brain glucose utilization in Salla disease (free sialic acid storage disorder). (9935050)
1999
21
Use of isotopically radiolabelled GM3 ganglioside to study metabolic alterations in Salla disease. (9343943)
1997
22
Salla disease--rare or underdiagnosed? (9112963)
1997
23
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease. (8825046)
1996
24
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15. (7573051)
1995
25
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. (7557994)
1995
26
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. (7885532)
1994
27
Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. (1505579)
1992
28
Exclusion map of Salla disease: attempts to localize the disease gene using a computer program. (1733832)
1992
29
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease. (1959930)
1991
30
Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease. (2381164)
1990
31
Neuropathology of Salla disease. (3287834)
1988
32
Pulmonary emphysema in a nonsmoking patient with Salla disease. (3565947)
1987
33
Disorders of lysosomal membrane transport--cystinosis and Salla disease. (3326729)
1987
34
Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes. (3425617)
1987
35
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts. (3944269)
1986
36
Studies of lysosomal sialic acid metabolism: retention of sialic acid by Salla disease lysosomes. (3718508)
1986
37
Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. (3961501)
1986
38
Salla disease variants. Sialoylaciduric encephalopathy with increased sialidase activity in two non-Finnish children. (3960283)
1986
39
Salla disease in one non-Finnish patient. (3770005)
1986
40
Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease. (4010893)
1985
41
Finnish type of sialic acid storage disease with sialuria (Salla disease): the occurrence and diagnostic significance of cytoplasmic vacuoles in blood lymphocytes. (4032465)
1985
42
Copper and zinc metabolism in aspartylglycosaminuria and Salla disease. (4012278)
1985
43
Clinical and laboratory diagnosis of Salla disease in infancy and childhood. (6694015)
1984
44
Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. (6681560)
1983
45
Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism. (6297896)
1983
46
"Salla disease": a new lysosomal storage disorder. (420628)
1979
47
Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease. (510308)
1979
48
Four patients with a new lysosomal storage disorder (Salla disease). (723890)
1978

Genetic Variations for Salla Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Salla Disease:

63
id Symbol AA change Variation SNP ID
1SLC17A5p.Arg39CysVAR_018684
2SLC17A5p.Lys136GluVAR_018685

Expression for genes affiliated with Salla Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Salla Disease

Search GEO for disease gene expression data for Salla Disease.

Pathways for genes affiliated with Salla Disease

Sources:
30KEGG, 38NCBI BioSystems Database
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Pathways related to Salla Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1LAMP2, LAMP1
29.1LAMP2, LAMP1
39.1LAMP2, LAMP1
48.5LAMP2, LAMP1, SLC17A5

Compounds for genes affiliated with Salla Disease

Sources:
45Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Salla Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dmso459.4LAMP1, SLC17A5
2iron45 2410.3LAMP1, SLC17A5
3n-acetyllactosamine45 2410.3LAMP2, LAMP1
4mannose 6-phosphate45 2410.2LAMP2, LAMP1
5epinephrine45 11 2411.2LAMP1, SLC17A5
6sucrose45 11 2411.1LAMP1, LAMP2
7glycogen45 249.7LAMP2, SLC17A5

GO Terms for genes affiliated with Salla Disease

Sources:
16Gene Ontology
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Cellular components related to Salla Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.1LAMP2, LAMP1
2late endosomeGO:0057708.8LAMP2, LAMP1
3lysosomal membraneGO:0057658.5LAMP2, LAMP1, SLC17A5
4membraneGO:0160208.4SLC17A5, LAMP1, LAMP2

Products for genes affiliated with Salla Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Salla Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet